| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 42 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 6 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene